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Familial, demyelinating sensory and motor polyneuropathy with conduction block
Author(s) -
Scelsa Stephen N.
Publication year - 2010
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.21558
Subject(s) - medicine , prednisone , polyneuropathy , multifocal motor neuropathy , chronic inflammatory demyelinating polyneuropathy , pathology , immunology , mismatch negativity , antibody , electroencephalography , psychiatry
Both multifocal, demyelinating features and prednisone responsiveness are rare in Charcot–Marie–Tooth (CMT) disease. We report a mother and son with a prednisone‐responsive, multifocal, demyelinating, predominantly sensory polyneuropathy that was associated with an isoleucine92valine polymorphism of lipopolysaccharide‐induced TNF‐alpha factor (LITAF). The mother had a multifocal, acquired, demyelinating sensory and motor polyneuropathy (MADSAM)‐like presentation. The son developed left peroneal neuropathy during acute Lyme disease with a subsequent relapsing, MADSAM‐like illness, despite antibiotic treatment. Both shared prednisone responsiveness and multifocal, demyelinating features electrophysiologically. MADSAM may be familial (FaDSAM) and respond to prednisone. Muscle Nerve 41: 558–562, 2010